In genetics, a non-paternity event (also known as misattributed paternity, not parent expected, or NPE) occurs when an individual's presumed father is not in fact their biological father. This is a type of misattributed parentage experience (MPE) which can involve inaccurate assumptions made by an individual, their parents, or medical professionals. An NPE may result from sperm donation, closed adoption, heteropaternal superfecundation, promiscuity, paternity fraud, sexual assault, or medical errors during the process of assisted reproduction such as mixups during procedures such as in vitro fertilization and artificial insemination. [1] Where there is uncertainty, the most reliable technique for establishing paternity is through genetic testing. Currently, there are many direct-to-consumer companies that offer paternity testing. Internationally, June 27 is recognized as NPE Awareness Day. [2]
The term non-paternity event was first used in 2000 in a study of the surname "Skyes" and the Y-chromosome haplotype to denote if non-Skyes males had been introduced into the family line. [3] Bellis et al. (2005) stated that non-paternity "occurs when a child is believed to have been fathered by the husband (or partner) but is actually the child of another man." [1] Non-paternity events are also sometimes referred to as paternity, paternal discrepancy or false paternity. Although it is sometimes referred to as paternity fraud, that suggests that the misattribution was deliberate, rather than accidental. [4] In a scientific review of non-paternity studies since the 1950s, Bellis et al. (2005) stated that knowingly covering up an accidental pregnancy that resulted from infidelity is often assumed to be the reason for non-paternity but that there are many other reasons: "for example, where sex with the long term partner has not produced children a woman might seek conception elsewhere." Other reasons include closed adoption, accidental misattribution resulting from multiple relationships in close succession as well as medical mistakes, such as mixups during procedures such as in vitro fertilization and artificial insemination. [1]
In genetic genealogy, the term non-paternity is often used in a wider context to indicate a break in the link between the Y-chromosome and the surname. Such a breakage may occur because of formal or informal adoption, premarital or extramarital intercourse or rape; a woman raising a grandchild as her own to cover for her unwed daughter's pregnancy or when individuals use a different surname than their biological father, such as their mother's maiden name, a stepfather's name, the use of aliases or a legal name change. [5]
Genetic testing is the most reliable method to establish paternity, although rare errors can occur due to genetic mutations or misinterpretation of test results. However, genetic testing is based on probabilities and is not always definitive. Jones et al. (2010) said, "Characteristics of the markers and the fact that they are analyzed by fallible humans can result in inconsistencies that present problems for parentage analysis." False negatives may occur due to low-quality samples, gene mutations, or genotyping errors (when a genotype is misread or inaccurately scored). There is a higher probability of accuracy when DNA from both parents can be tested. The accuracy increases even more when DNA from a sibling is available. [6]
Overall, the incidence of misattributed parentage experiences ranges from about 0.4% to 5.9%, [7] though it may be higher in certain populations. For example, in a United States sample of nearly 24,000 users of FamilyTreeDNA, 3% reported an NPE result. [8] The discovery of previously unsuspected or undisclosed non-paternity may lead to social, psychological, and medical consequences. [9] Non-paternity is medically relevant when interpreting the results and utility of genetic screening for hereditary illnesses. However, the requirements for consent and counseling vary by country. [10]
The rise of direct-to-consumer genetic testing (DTC GT) has resulted in consumers learning about their NPE. This often leads to significant psychological and familial implications. [9] Results from DTC GT tests, such as 23andMe, may provide this information in the form of a DNA Relatives results page which shows the name of the consumer that you are related to, and your presumed relationship based on the percentage of shared DNA, including the amount of shared DNA segments. [11] When viewing this information, if one's presumed parent is not listed, or another parent is listed whom the consumer does not know, one may learn of their NPE.
Experiences of learning about one's NPE has been captured in the news. For example, In a Wall Street Journal article, several people who learned about their NPE through DTC GT discussed how discovering their biological parent’s identity affected their sense of self and broader familial relationships, sparking difficult questions about whether parents should disclose to their children that they were donor conceived. [12] Similarly, in The New York Times , two Canadian men discovered that they were switched at birth from DTC GT. [13] Researchers have picked up on this phenomenon, and have sought to identify news outlets articulate how people discuss DTC GT. Specifically, in one paper the authors found that out of 100 news articles, nearly 79% of them discussed identifying new family members. [14]
Experiences of learning about one's NPE has also been written about in books. Some of the relevant books include:
It is difficult to accurately estimate the incidence of non-paternity events, and there have been large discrepancies in the research published on the topic. Often, data on non-paternity rates are reported tangentially to the primary goal of research without sufficient detail, and very few studies involve randomized samples. As such, it is not possible to make valid generalizations based on a large portion of the available literature. [19] Bellis et al. (2005) found that between 1950 and 2004, the rates of non-paternity events published in scientific journals ranged from 0.8% to 30% with a median of 3.7%. [1] According to a study published in the Lancet, "High rates have been quoted, but are often unsupported by any published evidence or based on unrepresentative population samples." [19]
Turi King and Mark Jobling of the Department of Genetics at University of Leicester called the commonly cited 30% rate of non-paternity an "urban myth." [20] According to King and Jobling, the figure is really around 2%. They also stated that non-paternity events is often impacted by cultural and socioeconomic factors and that it occurs more frequently among unmarried couples. [21] The sociologist Michael Gilding concluded that inflated figures have been circulated by the media, the paternity testing industry, fathers' rights activists and evolutionary psychologists. [22] [23] He traced many of those overestimates back to a 1972 conference at which non-paternity rates as high as 30% were discussed. [24] Gilding states that those data show only the incidence of non-paternity in which disputed parentage was the reason for paternity testing. [1] [25] In situations that disputed parentage was the reason for the paternity testing, there were higher levels with an incidence of 17% to 33% (median of 26.9%). Most at risk of parental discrepancy were those born to younger parents, to unmarried couples and those of lower socio-economic status or from certain ethnic and cultural groups. [1]
Rarely, genetic testing has revealed children from multiple births to have different fathers, which is known as heteropaternal superfecundation. One study estimated that the incidence of bipaternal twins born to white women in the United States is around one pair in 400. [26] Another study found the prevalence to be approximately one pair in 13,000 cases. [27]
DNA paternity testing is the use of DNA profiles to determine whether an individual is the biological parent of another individual. Paternity testing can be especially important when the rights and duties of the father are in issue and a child's paternity is in doubt. Tests can also determine the likelihood of someone being a biological grandparent. Though genetic testing is the most reliable standard, older methods also exist, including ABO blood group typing, analysis of various other proteins and enzymes, or using human leukocyte antigen antigens. The current techniques for paternity testing are using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Paternity testing can now also be performed while the woman is still pregnant from a blood draw.
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously.
A haplotype is a group of alleles in an organism that are inherited together from a single parent.
In biology and genetic genealogy, the most recent common ancestor (MRCA), also known as the last common ancestor (LCA), of a set of organisms is the most recent individual from which all the organisms of the set are descended. The term is also used in reference to the ancestry of groups of genes (haplotypes) rather than organisms.
Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project.
A genealogical DNA test is a DNA-based genetic test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or to estimate the ethnic mixture of an individual. Since different testing companies use different ethnic reference groups and different matching algorithms, ethnicity estimates for an individual vary between tests, sometimes dramatically.
Superfecundation is the fertilization of two or more ova from the same cycle by sperm from separate acts of sexual intercourse, which can lead to twin babies from two separate biological fathers. The term superfecundation is derived from fecund, meaning able to produce offspring. Homopaternal superfecundation is fertilization of two separate ova from the same father, leading to fraternal twins, while heteropaternal superfecundation is a form of atypical twinning where, genetically, the twins are half siblings – sharing the same mother, but with different fathers.
Genetic discrimination occurs when people treat others differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination. Some legal scholars have argued for a more precise and broader definition of genetic discrimination: "Genetic discrimination should be defined as when an individual is subjected to negative treatment, not as a result of the individual's physical manifestation of disease or disability, but solely because of the individual's genetic composition." Genetic Discrimination is considered to have its foundations in genetic determinism and genetic essentialism, and is based on the concept of genism, i.e. distinctive human characteristics and capacities are determined by genes.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Genetic analysis is the overall process of studying and researching in fields of science that involve genetics and molecular biology. There are a number of applications that are developed from this research, and these are also considered parts of the process. The base system of analysis revolves around general genetics. Basic studies include identification of genes and inherited disorders. This research has been conducted for centuries on both a large-scale physical observation basis and on a more microscopic scale. Genetic analysis can be used generally to describe methods both used in and resulting from the sciences of genetics and molecular biology, or to applications resulting from this research.
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share similar numbers of short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). The Y-chromosome accumulates approximately two mutations per generation, and Y-DNA haplogroups represent significant branches of the Y-chromosome phylogenetic tree, each characterized by hundreds or even thousands of unique mutations.
Paternity fraud is one form of misattributed paternity or paternal discrepancy. Specifically, paternity fraud is the intentional misidentification of a child's biological father. Paternity fraud is distinct from other, unintentional misattribution, which may arise from simple error, an accident such as a mix-up during fertility treatment, or a sexual assault.
Predictive medicine is a field of medicine that entails predicting the probability of disease and instituting preventive measures in order to either prevent the disease altogether or significantly decrease its impact upon the patient.
A Y-SNP is a single-nucleotide polymorphism on the Y chromosome. Y-SNPs are often used in paternal genealogical DNA testing.
In paternity testing, Paternity Index (PI) is a calculated value generated for a single genetic marker or locus and is associated with the statistical strength or weight of that locus in favor of or against parentage given the phenotypes of the tested participants and the inheritance scenario. Phenotype typically refers to physical characteristics such as body plan, color, behavior, etc. in organisms. However, the term used in the area of DNA paternity testing refers to what is observed directly in the laboratory. Laboratories involved in parentage testing and other fields of human identity employ genetic testing panels that contain a battery of loci each of which is selected due to extensive allelic variations within and between populations. These genetic variations are not assumed to bestow physical and/or behavioral attributes to the person carrying the allelic arrangement(s) and therefore are not subject to selective pressure and follow Hardy Weinberg inheritance patterns.
Bennett C. Greenspan is an American businessman. His business ventures have covered industries from real estate to the .com boom. Though he has mainly worked in the fields of photography and genetic testing, he is best known for his pioneering work in genetic genealogy.
Gene by Gene is a commercial genetic testing company based in Houston, Texas. The company was owned by Bennett Greenspan and Max Blankfeld, and was the parent company of Family Tree DNA. In January 2021, Gene by Gene was acquired by US based parent company myDNA Inc. Gene by Gene and Australia company myDNA Life Private Ltd. are both subsidiaries of parent company, myDNA Inc. The current Chief Executive Officer of myDNA Inc. is, Dr Lior Rauchberger.
The International Society of Genetic Genealogy (ISOGG) is an independent non-commercial nonprofit organization of genetic genealogists run by volunteers. It was founded by a group of surname DNA project administrators in 2005 to promote DNA testing for genealogy. It advocates the use of genetics in genealogical research, provides educational resources for genealogists interested in DNA testing, and facilitates networking among genetic genealogists. As of June 2013, it comprises over 8,000 members in 70 countries. As of July 2013, regional meetings are coordinated by 20 volunteer regional coordinators located in the United States, Australia, Brazil, Canada, England, Egypt, Ireland and Russia.
Ann Trommershausen Bowling was an American scientist who was one of the world's leading geneticists in the study of horses, conducting research in the areas of molecular genetics and cytogenetics. She was a major figure in the development of testing to determine animal parentage, first with blood typing in the 1980s and then DNA testing in the 1990s. She later became known for her studies of hereditary diseases in horses and equine coat color genetics, as well as research on horse evolution and the development of horse breeds. She studied the population genetics of feral horses, did considerable work to help preserve the Przewalski's horse, and was one of the founding members of the international project to map the horse genome. She was an adjunct professor at the University of California, Davis (UCD), and at the time of her death in 2000 was the executive associate director of the Veterinary Genetics Laboratory (VGL) there. Her unexpected death on December 8, 2000, at age 57 was attributed to a massive stroke.
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